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    Pkd1l2 polycystic kidney disease 1 like 2 [ Mus musculus (house mouse) ]

    Gene ID: 76645, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Pkd1l2provided by MGI
    Official Full Name
    polycystic kidney disease 1 like 2provided by MGI
    Primary source
    MGI:MGI:2664668
    See related
    Ensembl:ENSMUSG00000034416 AllianceGenome:MGI:2664668
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1700126L06Rik
    Summary
    Predicted to enable G-protein alpha-subunit binding activity and calcium channel activity. Predicted to be involved in detection of mechanical stimulus. Predicted to be active in membrane. Is expressed in brain; brainstem; cochlea; spinal cord; and testis. Orthologous to human PKD1L2 (polycystin 1 like 2 (gene/pseudogene)). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See Pkd1l2 in Genome Data Viewer
    Location:
    8 E1; 8 63.45 cM
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (117722089..117809227, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (116995679..117082449, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700030J22 gene Neighboring gene STARR-positive B cell enhancer ABC_E2878 Neighboring gene STARR-positive B cell enhancer ABC_E6691 Neighboring gene STARR-positive B cell enhancer ABC_E3808 Neighboring gene STARR-seq mESC enhancer starr_22806 Neighboring gene glycine cleavage system protein H (aminomethyl carrier) Neighboring gene predicted gene, 31519 Neighboring gene predicted gene 15395 Neighboring gene STARR-seq mESC enhancer starr_22807 Neighboring gene beta-carotene oxygenase 1 Neighboring gene STARR-positive B cell enhancer ABC_E8266 Neighboring gene giant axonal neuropathy Neighboring gene STARR-positive B cell enhancer ABC_E2275

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes. Li A, et al. Genomics, 2003 Jun. PMID 12782129
    2. Two members of the TRPP family of ion channels, Pkd1l3 and Pkd2l1, are co-expressed in a subset of taste receptor cells. LopezJimenez ND, et al. J Neurochem, 2006 Jul. PMID 16805797
    3. Thirteen Ovary-Enriched Genes Are Individually Not Essential for Female Fertility in Mice. Pham AH, et al. Cells, 2024 May 8. PMID 38786026, Free PMC Article
    4. The late and dual origin of cerebrospinal fluid-contacting neurons in the mouse spinal cord. Petracca YL, et al. Development, 2016 Mar 1. PMID 26839365, Free PMC Article
    5. A quantitative analysis of the spatiotemporal pattern of transient receptor potential gene expression in the developing mouse cochlea. Asai Y, et al. J Assoc Res Otolaryngol, 2010 Mar. PMID 19834762, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1)  1 citation
    • Targeted (3) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables G-protein alpha-subunit binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in detection of mechanical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    polycystin-1-like protein 2
    Names
    PC1-like 2 protein
    polycystic kidney disease protein 1-like 2
    polycystin-1L2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_029686.4 → NP_083962.4  polycystin-1-like protein 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC162858, AY164484
      Consensus CDS
      CCDS57646.1
      UniProtKB/Swiss-Prot
      Q7TN88
      UniProtKB/TrEMBL
      E9QPG2
      Related
      ENSMUSP00000104721.4, ENSMUST00000109093.10
      Conserved Domains (6) summary
      cd00037
      Location:37 → 153
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:1390 → 1509
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam01825
      Location:1280 → 1319
      GPS; GPCR proteolysis site, GPS, motif
      pfam02010
      Location:492 → 864
      REJ; REJ domain
      pfam02140
      Location:168 → 250
      Gal_Lectin; Galactose binding lectin domain
      pfam08016
      Location:1980 → 2402
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      117722089..117809227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154370.1 → XP_036010263.1  polycystin-1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q7TN88
      Conserved Domains (6) summary
      smart00034
      Location:28 → 154
      CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
      cd01752
      Location:1392 → 1511
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam02010
      Location:493 → 866
      REJ; REJ domain
      pfam01825
      Location:1282 → 1321
      GPS; GPCR proteolysis site, GPS, motif
      pfam02140
      Location:170 → 252
      Gal_Lectin; Galactose binding lectin domain
      pfam08016
      Location:1987 → 2407
      PKD_channel; Polycystin cation channel
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TN88.1 GenPept UniProtKB/Swiss-Prot:Q7TN88

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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